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MEDICAL STUDENTS’ KNOWLEDGE AND SENSITIVITY TO DYSMORPHIC FEATURES OF A CHILD WITH CRANIOFACIAL MICROSOMIA (CFM)

100%
Milska K. A., Rudnik A., Mański A., Wierzba J.
Acta Neuropsychologica
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2020
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vol. 18(4)
425-436
EN
The aim of the study was to examine the level of knowledge and sensitivity to dysmorphic features in a child with facial and body dysmorphia on the part of students of medicine and dentistry. We tested 70 students of medicine and 70 students of dentistry. A photograph of a child with craniofacial microsomia (CFM)was shown to all the tested students. Their task was to detect and name those facial deformities and describe the child in terms of selected features not related to the child’s health condition. As a tool was used the Overgeneralization Effect Scale and a questionnaire designed by the author relating to facial deformities. Significant differences were observed in the level of knowledge and sensitivity to dysmorphic features between students of medicine and dentistry. Future dentists detected more dysmorphic features in the face of the photographed child when compared to students of medicine. Interestingly, this sensitivity to abnormalities was found to noticeably increase with each subsequent year of study for dentistry students, while the opposite was observed for the stu dents of medicine. Importantly, a relationship was observed be tween the sensitivity to dysmorphic features and the general evaluation of the child in terms of non-medical aspects by the group of dentistry students. With the increase in the students’ skills to recognize dysmorphic features, the overall evaluation of the child tended to decrease. The results obtained indicate that the skills related to recognizing dysmorphic features are better in students of dentistry than in students of medicine. The sensitivity to abnormalities evidently increase with each subsequent year of study for dentistry students, while the opposite was observed for medical students.
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DIAGNOSIS OF CHILDREN WITH SANFILIPPO DISEASE – PSYCHOLOGICAL, SOCIAL AND MOTOR ASSESSMENT

88%
Anikiej-Wiczenbach P., Rudnik A., Limanówka M., Wierzba J., Mański A.
Acta Neuropsychologica
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2020
|
vol. 18(4)
525-535
EN
Sanfilippo disease (mucopolysaccharidosis, MPS IIIA) is one of the types of mucopolysaccharidosis associated with extensive neurological effects and somatic symptoms. The consequences of neurodegeneration and cognitive impairment are manifested in challenges with the daily functioning of patients who experience problems with communication and following instructions. The aim of this study was to assess the cognitive functioning of three patients with MPS IIIA and to find patterns of neurodegeneration and to make their environment more friendly. Three boys (from 5.5 to 7 years) with MPS IIIA participated in the study. Each participant attended two meetings, and his functioning was assessed by three independent person (using two-way mirror). We used Bayley’s Scale III with some modifications. Interviews with parents were also included. The communication of patients was limited to some vocalizations. Patients presented instrumental use of items, but not all of them were able to repeat actions after diagnostician or presented object permanence. The results showed that the cognitive functioning of participants was significantly hindered by problems related to motor dysfunction, hyperactivity, and ataxia. The psychological data was collated with medical results. This study allows indicating new sources giving the possibility of child phenotype variability and to create specific interventions in the field of psychological therapy for patients with MPS IIIA and their families.
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